Vertebrate Sensory Ganglia: Common and Divergent Features of the Transcriptional Programs Generating Their Functional Specialization

Vermeiren, Simon; Bellefroid, Éric; Desiderio, Simon

doi:10.3389/fcell.2020.587699

Cited by 55 publications

(56 citation statements)

References 248 publications

(361 reference statements)

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“…Although the intellectual disability present in our patient may be partly ascribed to deafness and sensorial deprivation, and the self‐injurious behavior likewise attributed to abnormal sensation in the trigeminal territory, it is likely these features, as well as epilepsy, are manifestations of abnormal cortical development. NEUROG1 promotes sensory neuron differentiation in dorsal root ganglia 18 . Thus, delayed motor development, and the findings on nerve conduction studies compatible with a subclinical axonal sensory neuropathy in our patient, may also be related to the NEUROG1 gene defect.…”

Section: Discussionsupporting

confidence: 59%

Adding evidence to the role of NEUROG1 in congenital cranial dysinnervation disorders

et al. 2021

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Congenital cranial dysinnervation disorders (CCDDs) are a heterogeneous group of neurodevelopmental phenotypes caused by a primary disturbance of innervation due to deficient, absent, or misguided cranial nerves. Although some CCDDs genes are known, several clinical phenotypes and their aetiologies remain to be elucidated. We describe a 12‐year‐old boy with hypotonia, developmental delay, sensorineural hearing loss, and keratoconjunctivitis due to lack of corneal reflex. He had a long expressionless face, severe oromotor dysfunction, bilateral agenesis/severe hypoplasia of the VIII nerve with marked atresia of the internal auditory canals and cochlear labyrinth malformation. Trio‐exome sequencing identified a homozygous loss of function variant in the NEUROG1 gene (NM_006161.2: c.202G > T, p.Glu68*). NEUROG1 is considered a causal candidate for CCDDs based on (i) the previous report of a patient with a homozygous gene deletion and developmental delay, deafness due to absent bilateral VIII nerves, and severe oromotor dysfunction; (ii) a second patient with a homozygous NEUROG1 missense variant and corneal opacity, absent corneal reflex and intellectual disability; and (iii) the knockout mouse model phenotype which highly resembles the disorder observed in humans. Our findings support the growing compelling evidence that loss of NEUROG1 leads to a very distinctive disorder of cranial nerves development.

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Section: Discussionsupporting

confidence: 59%

Adding evidence to the role of NEUROG1 in congenital cranial dysinnervation disorders

et al. 2021

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“…We were therefore able to follow the differentiation dynamics of neural crest cells to PNS neurons during human embryogenesis. To classify the subtype identity of neural crest cells and investigate sensory neurogenesis in human, we mapped cells using markers of the PNS that had previously been defined in other species ( Chiu et al, 2014 ; Hockley et al, 2019 ; Li et al, 2016 ; Usoskin et al, 2015 ; Vermeiren et al, 2020 ; Zeisel et al, 2018 ). We established a classification scheme to subdivide cells into the three cell types characteristic of the embryonic day (E) 11.5 mouse trunk dorsal root ganglia ( Soldatov et al, 2019 ): (1) progenitors, marked by the expression of SOX10 alone or in combination with SOX2 ; (2) sensory neuron precursors, marked by the expression of NEUROG1 , NEUROG2 and NEUROD1 ; and (3) postmitotic sensory neurons expressing ELAVL3 ( Fig.…”

Section: Resultsmentioning

confidence: 99%

Single-cell transcriptome profiling of the human developing spinal cord reveals a conserved genetic programme with human-specific features

et al. 2021

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The spinal cord receives input from peripheral sensory neurons and controls motor output by regulating muscle innervating motor neurons. These functions are carried out by neural circuits comprising molecularly distinct neuronal subtypes generated in a characteristic spatial-temporal arrangement from progenitors in the embryonic neural tube. To gain insight into the diversity and complexity of cells in the developing human neural tube we used single cell mRNA sequencing to profile cervical and thoracic regions in four human embryos of Carnegie Stages (CS) CS12, CS14, CS17 and CS19 from Gestational Weeks 4-7. Analysis of progenitor and neuronal populations from the neural tube and dorsal root ganglia identified dozens of distinct cell types and facilitated the reconstruction of the differentiation pathways of specific neuronal subtypes. Comparison with mouse revealed the overall similarity of mammalian neural tube development while highlighting human specific features. These data provide a catalogue of gene expression and cell type identity in the human neural tube that will support future studies of sensory and motor control systems. The data can be explored at https://shiny.crick.ac.uk/scviewer/neuraltube/.

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“…This allowed us to follow the differentiation dynamics of neural crest cells to PNS neurons during human embryogenesis. To classify subtype identity of neural crest cells and investigate sensory neurogenesis in human, we mapped cells using markers of the PNS that had previously been defined in other species (Chiu et al, 2014;Hockley et al, 2019;Li et al, 2016;Usoskin et al, 2015;Vermeiren et al, 2020;Zeisel et al, 2018). We established a classification scheme to subdivide cells into the three cell types characteristic of the E11.5 mouse trunk dorsal root ganglia (Soldatov et al, 2019): (i) progenitors, marked by the expression of SOX10 alone or in combination with SOX2; (ii) sensory neuron precursors, marked by the expression of NEUROG1, NEUROG2 and NEUROD1; and (iii) postmitotic sensory neurons expressing ELAVL3 (FIG 5A), as the expression of the broad mouse somatosensory neuron marker advillin (AVIL) was limited to a small subset of cells in the human dataset (FIG 5A).…”

Section: Classification Of Peripheral Nervous System Cellsmentioning

confidence: 99%

Single cell transcriptome profiling of the human developing spinal cord reveals a conserved genetic programme with human specific features

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Maizels

Barrington

et al. 2021

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The spinal cord receives input from peripheral sensory neurons and controls motor output by regulating muscle innervating motor neurons. These functions are carried out by neural circuits comprising molecularly and physiologically distinct neuronal subtypes that are generated in a characteristic spatial-temporal arrangement from progenitors in the embryonic neural tube. The systematic mapping of gene expression in mouse embryos has provided insight into the diversity and complexity of cells in the neural tube. For human embryos, however, less information has been available. To address this, we used single cell mRNA sequencing to profile cervical and thoracic regions in four human embryos of Carnegie Stages (CS) CS12, CS14, CS17 and CS19 from Gestational Weeks (W) 4-7. In total we recovered the transcriptomes of 71,219 cells. Analysis of progenitor and neuronal populations from the neural tube, as well as cells of the peripheral nervous system, in dorsal root ganglia adjacent to the neural tube, identified dozens of distinct cell types and facilitated the reconstruction of the differentiation pathways of specific neuronal subtypes. Comparison with existing mouse datasets revealed the overall similarity of mouse and human neural tube development while highlighting specific features that differed between species. These data provide a catalogue of gene expression and cell type identity in the developing neural tube that will support future studies of sensory and motor control systems and can be explored at https://shiny.crick.ac.uk/scviewer/neuraltube/.

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Vertebrate Sensory Ganglia: Common and Divergent Features of the Transcriptional Programs Generating Their Functional Specialization

Cited by 55 publications

References 248 publications

Adding evidence to the role of NEUROG1 in congenital cranial dysinnervation disorders

Adding evidence to the role of NEUROG1 in congenital cranial dysinnervation disorders

Single-cell transcriptome profiling of the human developing spinal cord reveals a conserved genetic programme with human-specific features

Single cell transcriptome profiling of the human developing spinal cord reveals a conserved genetic programme with human specific features

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